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neuronal ceroid lipofuscinosis 7

Summary

Synonym

CLN7

Definition

A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Super Class

autosomal recessive disease neuronal ceroid lipofuscinosis

External Links

Disease Ontology

DOID:0110722

Mondo Disease Ontology

ORDO

228366

OMIM

610951

GARD

1220

MGI genotype (from TogoID)

5604251

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
256471	MFSD8	major facilitator superfamily domain containing 8	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
72175	Mfsd8	major facilitator superfamily domain containing 8	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
564342	mfsd8	major facilitator superfamily domain containing 8	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
444062	mfsd8.L	major facilitator superfamily domain containing 8 L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

The Human Phenotype Ontology

Displaying entries **1 - 10** of 52 in total

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HPO ID	HPO Term
HP:0000483	Astigmatism
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000572	Visual loss
HP:0000618	Blindness
HP:0000649	Abnormality of visual evoked potentials
HP:0000708	Atypical behavior
HP:0000718	Aggressive behavior
HP:0000726	Dementia
HP:0000729	Autistic behavior